Canonical Allele Identifier: CA752322897

Gene: HORMAD2

Linked Data

• dbSNP Id: rs1412855849
• gnomAD v3: 22-30098339-T-G
• gnomAD v4: 22-30098339-T-G
• MyVariant Identifiers: chr22:g.30494328T>G (hg19) ; chr22:g.30098339T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.30098339T>G , CM000684.2:g.30098339T>G	GRCh38
NC_000022.10:g.30494328T>G , CM000684.1:g.30494328T>G	GRCh37
NC_000022.9:g.28824328T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000336726.11:c.52-513T>G MANE Select	ENSP00000336984.6:n.52-513T>G
ENST00000336726.10:c.52-513T>G	ENSP00000336984.6:n.52-513T>G
ENST00000403975.1:c.52-513T>G	ENSP00000385055.1:n.52-513T>G
ENST00000450612.5:c.52-513T>G	ENSP00000393415.1:n.52-513T>G
ENST00000491605.1:n.47-513T>G
NM_152510.2:c.52-513T>G	NP_689723.1:n.52-513T>G
XM_006724147.2:c.52-513T>G	XP_006724210.2:n.52-513T>G
XM_011529913.1:c.52-513T>G	XP_011528215.1:n.52-513T>G
XM_011529914.1:c.52-513T>G	XP_011528216.1:n.52-513T>G
XM_011529915.1:c.52-513T>G	XP_011528217.1:n.52-513T>G
XM_011529916.1:c.52-513T>G	XP_011528218.1:n.52-513T>G
XM_011529917.1:c.52-513T>G	XP_011528219.1:n.52-513T>G
XM_011529918.1:c.52-513T>G	XP_011528220.1:n.52-513T>G
XM_011529919.1:c.-176-513T>G	XP_011528221.1:n.-176-513T>G
NM_001329457.1:c.52-513T>G	NP_001316386.1:n.52-513T>G
NM_001329458.1:c.-176-513T>G	NP_001316387.1:n.-176-513T>G
NM_152510.3:c.52-513T>G	NP_689723.1:n.52-513T>G
XM_011529914.2:c.52-513T>G	XP_011528216.1:n.52-513T>G
XM_011529917.3:c.52-513T>G	XP_011528219.1:n.52-513T>G
XM_017028621.1:c.52-513T>G	XP_016884110.1:n.52-513T>G
XM_017028622.1:c.52-513T>G	XP_016884111.1:n.52-513T>G
XM_017028624.1:c.-176-513T>G	XP_016884113.1:n.-176-513T>G
NM_001329457.2:c.52-513T>G	NP_001316386.1:n.52-513T>G
NM_001329458.2:c.-176-513T>G	NP_001316387.1:n.-176-513T>G
NM_152510.4:c.52-513T>G MANE Select	NP_689723.1:n.52-513T>G